{"id":16719,"date":"2026-01-20T00:48:34","date_gmt":"2026-01-20T00:48:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16719"},"modified":"2026-01-20T05:52:08","modified_gmt":"2026-01-20T05:52:08","slug":"17p12-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/17p12-deletion-syndrome\/","title":{"rendered":"17p12 deletion syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5727\u8feb\u9ebb\u75fa\u6027\u907a\u4f1d\u6027\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\uff08Hereditary Neuropathy with liability to Pressure Palsies; HNPP\uff09<\/li>\n\n\n\n<li>\u907a\u4f1d\u6027\u5727\u8106\u5f31\u6027\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc<\/li>\n\n\n\n<li>\u30c8\u30de\u30ad\u30e5\u30e9\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\uff08Tomaculous neuropathy\uff09<\/li>\n\n\n\n<li>PMP22\u6b20\u5931\u75c7\u5019\u7fa4\uff08PMP22 deletion syndrome\uff09<\/li>\n\n\n\n<li>17p12\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 17p12\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u91cd\u8981\u306a\u4f4d\u7f6e\u3065\u3051\uff1a<\/p>\n\n\n\n<p>\u300c17p12 deletion syndrome\u300d\u3068\u3044\u3046\u67d3\u8272\u4f53\u7570\u5e38\u306e\u540d\u79f0\u306f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u306f\u300c\u5727\u8feb\u9ebb\u75fa\u6027\u907a\u4f1d\u6027\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\uff08HNPP\uff09\u300d\u3068\u3044\u3046\u75be\u60a3\u540d\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u300117p12\u9818\u57df\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308bHNPP\u306e\u75c5\u614b\u3092\u4e2d\u5fc3\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002\u3061\u306a\u307f\u306b\u3001\u5168\u304f\u540c\u3058\u9818\u57df\u304c\u300c\u91cd\u8907\uff08\u6b20\u5931\u306e\u9006\uff09\u300d\u3059\u308b\u3068\u3001\u300c\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5 1A\u578b\uff08CMT1A\uff09\u300d\u3068\u3044\u3046\u5225\u306e\u795e\u7d4c\u75be\u60a3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0912\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e17\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u3042\u308b\u300c12\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001\u7d041.4\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306eDNA\u914d\u5217\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u6b20\u5931\u9818\u57df\u306b\u306f\u3001\u672b\u68a2\u795e\u7d4c\u306e\u6a5f\u80fd\u7dad\u6301\u306b\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>PMP22 (Peripheral Myelin Protein 22):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u4e3b\u5f79\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>PMP22<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u672b\u68a2\u795e\u7d4c\u306e\u300c\u8ef8\u7d22\uff08\u96fb\u7dda\uff09\u300d\u3092\u53d6\u308a\u5dfb\u304f\u300c\u9ac4\u9798\uff08\u30df\u30a8\u30ea\u30f3\uff1a\u7d76\u7e01\u4f53\u306e\u30ab\u30d0\u30fc\uff09\u300d\u3092\u69cb\u6210\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>17p12\u6b20\u5931\u306b\u3088\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u5931\u308f\u308c\u308b\u3068\u3001\u4f5c\u3089\u308c\u308bPMP22\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u308a\u307e\u3059\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u7d50\u679c\u3001\u30df\u30a8\u30ea\u30f3\u306e\u69cb\u9020\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308a\u3001\u7269\u7406\u7684\u306a\u5727\u529b\u306b\u5bfe\u3057\u3066\u6975\u7aef\u306b\u5f31\u304f\u306a\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6bd4\u8f03\u7684\u983b\u5ea6\u306f\u9ad8\u3044\u304c\u3001\u898b\u9003\u3055\u308c\u3066\u3044\u308b\uff08\u904e\u5c11\u8a3a\u65ad\uff09\u53ef\u80fd\u6027\u304c\u9ad8\u3044<\/strong><\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u75be\u60a3\u3067\u3059\u304c\u3001\u75c7\u72b6\u304c\u8efd\u5fae\u3067\u3042\u3063\u305f\u308a\u3001\u4e00\u904e\u6027\u3067\u3042\u3063\u305f\u308a\u3059\u308b\u305f\u3081\u3001\u8a3a\u65ad\u306b\u81f3\u3063\u3066\u3044\u306a\u3044\u300c\u96a0\u308c\u305f\u60a3\u8005\u3055\u3093\u300d\u304c\u591a\u304f\u5b58\u5728\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u63a8\u5b9a\u983b\u5ea6:<\/strong> \u4eba\u53e310\u4e07\u4eba\u3042\u305f\u308a\u7d042\u301c5\u4eba\u3001\u3042\u308b\u3044\u306f50,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>CMT1A\u3068\u306e\u6bd4\u8f03:<\/strong> \u540c\u3058\u9818\u57df\u306e\u91cd\u8907\u3067\u3042\u308bCMT1A\uff08\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c51A\u578b\uff09\u306e\u65b9\u304c\u81e8\u5e8a\u7684\u306b\u306f\u983b\u5ea6\u304c\u9ad8\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u306fCMT1A\u306e\u65b9\u304c\u75c7\u72b6\u304c\u6301\u7d9a\u7684\u3067\u8a3a\u65ad\u3055\u308c\u3084\u3059\u3044\u305f\u3081\u3067\u3042\u308a\u3001\u6f5c\u5728\u7684\u306aHNPP\u306e\u983b\u5ea6\u306f\u3082\u3063\u3068\u9ad8\u3044\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>17p12 deletion syndrome\uff08HNPP\uff09\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u75be\u60a3\u540d\u304c\u793a\u3059\u901a\u308a\u300c\u6a5f\u68b0\u7684\u306a\u5727\u8feb\uff08Pressure\uff09\u306b\u5bfe\u3057\u3066\u3001\u795e\u7d4c\u9ebb\u75fa\uff08Palsy\uff09\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\uff08Liability\uff09\u300d\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u5e38\u751f\u6d3b\u306e\u4e9b\u7d30\u306a\u52d5\u4f5c\u304c\u304d\u3063\u304b\u3051\u3067\u3001\u624b\u8db3\u306e\u3057\u3073\u308c\u3084\u8131\u529b\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u53cd\u5fa9\u6027\u306e\u672b\u68a2\u795e\u7d4c\u9ebb\u75fa\uff08\u4e2d\u6838\u75c7\u72b6\uff09<\/strong><\/p>\n\n\n\n<p>\u8efd\u5fae\u306a\u5727\u8feb\u3084\u727d\u5f15\u306b\u3088\u3063\u3066\u3001\u6025\u306b\uff08\u6025\u6027\uff09\u3001\u75db\u307f\u306a\u304f\uff08\u7121\u75db\u6027\uff09\u3001\u5358\u4e00\u306e\u795e\u7d4c\u304c\u9ebb\u75fa\uff08\u5358\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\uff09\u3057\u3001\u6570\u65e5\u304b\u3089\u6570\u9031\u9593\u304b\u3051\u3066\u81ea\u7136\u306b\u56de\u5fa9\u3059\u308b\u3001\u3068\u3044\u3046\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u7e70\u308a\u8fd4\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u597d\u767a\u90e8\u4f4d\u3068\u75c7\u72b6:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8153\u9aa8\u795e\u7d4c\uff08\u3072\u3056\u306e\u5916\u5074\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u304d\u3063\u304b\u3051:<\/strong> \u8db3\u3092\u7d44\u3093\u3067\u5ea7\u308b\u3001\u3042\u3050\u3089\u3092\u304b\u304f\u3001\u6b63\u5ea7\u3001\u9577\u9774\u306e\u30b4\u30e0\u306b\u3088\u308b\u5727\u8feb\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong> <strong>\u4e0b\u5782\u8db3\uff08Drop foot\uff09<\/strong>\u3002\u8db3\u9996\u304c\u4e0a\u306b\u53cd\u3089\u305b\u306a\u304f\u306a\u308a\u3001\u6b69\u304f\u3068\u304d\u306b\u8db3\u5148\u3092\u5f15\u304d\u305a\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c3a\u9aa8\u795e\u7d4c\uff08\u3072\u3058\u306e\u5185\u5074\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u304d\u3063\u304b\u3051:<\/strong> \u673a\u306b\u8098\u3092\u3064\u3044\u3066\u672c\u3092\u8aad\u3080\u3001\u8098\u3092\u66f2\u3052\u305f\u307e\u307e\u9577\u6642\u9593\u96fb\u8a71\u3092\u3059\u308b\u3001\u56fa\u3044\u30a2\u30fc\u30e0\u30ec\u30b9\u30c8\u306b\u8155\u3092\u7f6e\u304f\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong> \u5c0f\u6307\u3068\u85ac\u6307\u306e\u3057\u3073\u308c\u3001\u624b\u306e\u529b\u304c\u5165\u308a\u306b\u304f\u3044\uff08\u9df2\u624b\u5909\u5f62\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6a48\u9aa8\u795e\u7d4c\uff08\u4e8c\u306e\u8155\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u304d\u3063\u304b\u3051:<\/strong> \u8155\u6795\u3092\u3057\u3066\u5bdd\u308b\uff08\u30cf\u30cd\u30e0\u30fc\u30f3\u9ebb\u75fa\uff09\u3001\u6905\u5b50\u306b\u8155\u3092\u304b\u3051\u3066\u5bdd\u308b\uff08\u30b5\u30bf\u30c7\u30fc\u30ca\u30a4\u30c8\u9ebb\u75fa\uff09\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong> <strong>\u4e0b\u5782\u624b\uff08Wrist drop\uff09<\/strong>\u3002\u624b\u9996\u304c\u30c0\u30e9\u30ea\u3068\u4e0b\u304c\u308a\u3001\u6301\u3061\u4e0a\u3052\u3089\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b63\u4e2d\u795e\u7d4c\uff08\u624b\u9996\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u304d\u3063\u304b\u3051:<\/strong> \u30ad\u30fc\u30dc\u30fc\u30c9\u64cd\u4f5c\u306a\u3069\u306e\u624b\u9996\u306e\u9177\u4f7f\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong> \u624b\u6839\u7ba1\u75c7\u5019\u7fa4\uff08\u89aa\u6307\u304b\u3089\u4e2d\u6307\u306e\u3057\u3073\u308c\uff09\u3002\u672c\u75c7\u5019\u7fa4\u3067\u306f\u4e21\u5074\u6027\u306b\u767a\u75c7\u3057\u3084\u3059\u3044\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7d4c\u904e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u9ebb\u75fa\u306f\u3001\u5727\u8feb\u306e\u539f\u56e0\u3092\u53d6\u308a\u9664\u3051\u3070\u3001\u6570\u65e5\u301c\u6570\u9031\u9593\u3001\u9577\u3044\u5834\u5408\u306f\u6570\u30f6\u6708\u304b\u3051\u3066\u81ea\u7136\u306b\u56de\u5fa9\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u4f55\u5ea6\u3082\u7e70\u308a\u8fd4\u3059\u3068\u5b8c\u5168\u306b\u56de\u5fa9\u305b\u305a\u3001\u8efd\u5ea6\u306e\u7b4b\u529b\u4f4e\u4e0b\u3084\u611f\u899a\u920d\u9ebb\u304c\u6b8b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u75c7\u5e74\u9f62\u3068\u7d4c\u904e<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong> 10\u4ee3\u301c20\u4ee3\u306e\u601d\u6625\u671f\u304b\u3089\u82e5\u5e74\u6210\u4eba\u671f\u306b\u6700\u521d\u306e\u9ebb\u75fa\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u7d4c\u9a13\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u5834\u5408\u3084\u3001\u9ad8\u9f62\u306b\u306a\u3063\u3066\u521d\u3081\u3066\u8a3a\u65ad\u3055\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u500b\u4eba\u5dee:<\/strong> \u5168\u304f\u7121\u75c7\u72b6\u306e\u307e\u307e\u751f\u6daf\u3092\u904e\u3054\u3059\u4eba\u304b\u3089\u3001\u983b\u7e41\u306b\u9ebb\u75fa\u3092\u7e70\u308a\u8fd4\u3057\u3066\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u3092\u304d\u305f\u3059\u4eba\u307e\u3067\u3001\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6162\u6027\u7684\u306a\u795e\u7d4c\u75c7\u72b6<\/strong><\/p>\n\n\n\n<p>\u7e70\u308a\u8fd4\u3059\u9ebb\u75fa\u3068\u306f\u5225\u306b\u3001\u6162\u6027\u7684\u306a\u795e\u7d4c\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\uff08CMT\uff09\u69d8\u306e\u75c7\u72b6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u306e\u9ad8\u30a2\u30fc\u30c1\u8db3\uff08\u51f9\u8db3\uff1aPes cavus\uff09<\/li>\n\n\n\n<li>\u8171\u53cd\u5c04\u306e\u6d88\u5931\uff08\u819d\u3084\u30a2\u30ad\u30ec\u30b9\u8171\u3092\u53e9\u3044\u3066\u3082\u53cd\u5fdc\u3057\u306a\u3044\uff09<\/li>\n\n\n\n<li>\u9060\u4f4d\u7b4b\uff08\u624b\u8db3\u306e\u5148\uff09\u306e\u8efd\u5ea6\u306e\u7b4b\u529b\u4f4e\u4e0b\u3084\u7b4b\u840e\u7e2e<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306fCMT1A\u306b\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u4e00\u822c\u7684\u306bHNPP\u306e\u65b9\u304c\u75c7\u72b6\u306f\u8efd\u5ea6\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u611f\u899a\u969c\u5bb3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u3001\u9ebb\u75fa\u90e8\u4f4d\u4ee5\u5916\u306e\u5e83\u7bc4\u56f2\u306b\u308f\u305f\u3063\u3066\u8efd\u5ea6\u306e\u611f\u899a\u4f4e\u4e0b\uff08\u89e6\u3063\u305f\u611f\u3058\u304c\u920d\u3044\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u751f\u6d3b\u306b\u652f\u969c\u304c\u306a\u3044\u30ec\u30d9\u30eb\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u672c\u4eba\u3082\u6c17\u3065\u3044\u3066\u3044\u306a\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u3001\u75db\u307f\uff08\u795e\u7d4c\u969c\u5bb3\u6027\u75bc\u75db\uff09\u306f\u4f34\u3044\u307e\u305b\u3093\u304c\u3001\u7a00\u306b\u75db\u307f\u3092\u8a34\u3048\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u7a00\u306a\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u795e\u7d4c\u969c\u5bb3:<\/strong> \u6975\u3081\u3066\u7a00\u3067\u3059\u304c\u3001\u9854\u9762\u795e\u7d4c\u9ebb\u75fa\u3084\u96e3\u8074\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u67a2\u795e\u7d4c\u75c7\u72b6:<\/strong> \u901a\u5e38\u306f\u4e2d\u67a2\u795e\u7d4c\uff08\u8133\u30fb\u810a\u9ac4\uff09\u306f\u4fb5\u3055\u308c\u307e\u305b\u3093\u304c\u3001\u7a00\u306b\u8133\u306e\u767d\u8cea\u306bMRI\u4e0a\u306e\u5909\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u75c7\u72b6\u3068\u306f\u76f4\u7d50\u3057\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0817p12\uff09\u306e1.4Mb\u6b20\u5931\u306b\u3088\u308b\u3001PMP22\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. PMP22\u907a\u4f1d\u5b50\u3068\u30df\u30a8\u30ea\u30f3\u306e\u5f79\u5272<\/strong><\/p>\n\n\n\n<p>\u795e\u7d4c\u3092\u96fb\u7dda\u306b\u4f8b\u3048\u308b\u3068\u3001\u4e2d\u5fc3\u306e\u9285\u7dda\u304c\u300c\u8ef8\u7d22\u300d\u3001\u5468\u308a\u306e\u30b4\u30e0\u88ab\u819c\u304c\u300c\u30df\u30a8\u30ea\u30f3\uff08\u9ac4\u9798\uff09\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>PMP22\u306f\u3001\u3053\u306e\u30df\u30a8\u30ea\u30f3\u3092\u591a\u5c64\u306b\u5dfb\u304d\u4ed8\u3051\u3001\u30b3\u30f3\u30d1\u30af\u30c8\u306b\u5b89\u5b9a\u3055\u305b\u308b\u305f\u3081\u306e\u300c\u63a5\u7740\u5264\u300d\u3084\u300c\u7559\u3081\u5177\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u306a\u305c\u300c\u5727\u8feb\u300d\u306b\u5f31\u304f\u306a\u308b\u306e\u304b\uff1f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong> \u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066PMP22\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3068\u3001\u30df\u30a8\u30ea\u30f3\u306e\u5dfb\u304d\u65b9\u304c\u7de9\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30c8\u30de\u30ad\u30e5\u30e9\uff08Tomacula\uff09\u5f62\u6210:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9855\u5fae\u93e1\u3067\u795e\u7d4c\u3092\u89b3\u5bdf\u3059\u308b\u3068\u3001\u30df\u30a8\u30ea\u30f3\u304c\u90e8\u5206\u7684\u306b\u30bd\u30fc\u30bb\u30fc\u30b8\u306e\u3088\u3046\u306b\u5206\u539a\u304f\u81a8\u3089\u3093\u3067\u3044\u308b\u69cb\u9020\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3092\u300c\u30c8\u30de\u30ad\u30e5\u30e9\uff08Tomacula\uff09\u300d\u3068\u547c\u3073\u307e\u3059\uff08\u30e9\u30c6\u30f3\u8a9e\u3067\u30bd\u30fc\u30bb\u30fc\u30b8\u306e\u610f\u5473\uff09\u3002<\/li>\n\n\n\n<li>\u4e00\u898b\u3001\u5206\u539a\u304f\u3066\u4e08\u592b\u305d\u3046\u306b\u898b\u3048\u307e\u3059\u304c\u3001\u5b9f\u306f\u69cb\u9020\u7684\u306b\u975e\u5e38\u306b\u8106\u304f\u3001\u795e\u7d4c\u306e\u901a\u308a\u9053\u304c\u72ed\u3044\u5834\u6240\uff08\u624b\u9996\u3084\u8098\u306a\u3069\uff09\u3092\u901a\u308b\u969b\u3084\u3001\u5916\u304b\u3089\u5727\u529b\u304c\u304b\u304b\u3063\u305f\u969b\u306b\u3001\u5bb9\u6613\u306b\u30df\u30a8\u30ea\u30f3\u304c\u5d29\u58ca\u3057\u305f\u308a\u3001\u96fb\u6c17\u4fe1\u53f7\u304c\u30d6\u30ed\u30c3\u30af\u3055\u308c\u305f\u308a\u3057\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u3053\u308c\u304c\u300c\u5727\u8106\u5f31\u6027\u300d\u306e\u6b63\u4f53\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304b\u3089\u5b50\u307850%\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u60a3\u8005\u3055\u3093\u306e\u7d0480%\u306f\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u3042\u308a\u3001\u7d0420%\u306fDe novo\uff08\u7a81\u7136\u5909\u7570\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u8a3a\u65ad\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u5b50\u4f9b\u304c\u8a3a\u65ad\u3055\u308c\u305f\u5f8c\u306b\u89aa\u3092\u8abf\u3079\u308b\u3068\u3001\u5b9f\u306f\u89aa\u3082HNPP\u3060\u3063\u305f\uff08\u300c\u3088\u304f\u8db3\u304c\u3057\u3073\u308c\u308b\u4f53\u8cea\u3060\u3068\u601d\u3063\u3066\u3044\u305f\u300d\uff09\u3068\u3044\u3046\u30b1\u30fc\u30b9\u304c\u983b\u7e41\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u75fa\u308c\u3084\u3059\u3044\u300d\u3068\u3044\u3046\u75c7\u72b6\u3060\u3051\u3067\u306f\u8a3a\u65ad\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u4f1d\u5c0e\u901f\u5ea6\u691c\u67fb\uff08NCS\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u91cd\u8981\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u9ebb\u75fa\u3057\u3066\u3044\u306a\u3044\u795e\u7d4c\u3092\u542b\u3081\u3001\u5168\u8eab\u7684\u306b\u300c\u9060\u4f4d\u6f5c\u6642\u306e\u5ef6\u9577\uff08\u624b\u8db3\u306e\u672b\u7aef\u3067\u306e\u4f1d\u5c0e\u9045\u5ef6\uff09\u300d\u3084\u300c\u4f1d\u5c0e\u30d6\u30ed\u30c3\u30af\uff08\u5727\u8feb\u90e8\u4f4d\u3067\u306e\u4fe1\u53f7\u9014\u7d76\uff09\u300d\u3068\u3044\u3046\u7279\u5fb4\u7684\u306a\u30d1\u30bf\u30fc\u30f3\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08FISH\u6cd5 \/ \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u6cd5\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>17p12\u9818\u57df\u306e\u6b20\u5931\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002\u73fe\u5728\u3067\u306f\u3053\u308c\u304c\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u751f\u691c\uff08\u4ee5\u524d\u306e\u65b9\u6cd5\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8db3\u306e\u795e\u7d4c\u306e\u4e00\u90e8\u3092\u63a1\u53d6\u3057\u3066\u9855\u5fae\u93e1\u3067\u898b\u308b\u691c\u67fb\u3067\u3059\u3002\u7279\u5fb4\u7684\u306a\u300c\u30c8\u30de\u30ad\u30e5\u30e9\uff08\u30bd\u30fc\u30bb\u30fc\u30b8\u69d8\u80a5\u539a\uff09\u300d\u304c\u78ba\u8a8d\u3067\u304d\u307e\u3059\u304c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u666e\u53ca\u3057\u305f\u73fe\u5728\u306f\u3001\u4fb5\u8972\u6027\u304c\u9ad8\u3044\u305f\u3081\u884c\u308f\u308c\u308b\u3053\u3068\u306f\u5c11\u306a\u304f\u306a\u308a\u307e\u3057\u305f\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\u30fb\u7ba1\u7406<\/strong><\/h2>\n\n\n\n<p>17p12\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u6700\u5927\u306e\u67f1\u306f\u3001\u300c\u4e88\u9632\uff08\u751f\u6d3b\u6307\u5c0e\uff09\u300d\u3068\u300c\u5bfe\u75c7\u7642\u6cd5\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u81ea\u5206\u306e\u795e\u7d4c\u304c\u7269\u7406\u7684\u306b\u8106\u3044\u300d\u3053\u3068\u3092\u7406\u89e3\u3057\u3001\u795e\u7d4c\u3092\u5b88\u308b\u751f\u6d3b\u7fd2\u6163\u3092\u8eab\u306b\u3064\u3051\u308b\u3053\u3068\u304c\u4f55\u3088\u308a\u306e\u6cbb\u7642\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u751f\u6d3b\u6307\u5c0e\u30fb\u4e88\u9632\uff08\u6700\u3082\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<p>\u65e5\u5e38\u751f\u6d3b\u306e\u4e2d\u3067\u3001\u795e\u7d4c\u3078\u306e\u5727\u8feb\u3084\u727d\u5f15\u3092\u907f\u3051\u308b\u52d5\u4f5c\u3092\u5fb9\u5e95\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907f\u3051\u308b\u3079\u304d\u52d5\u4f5c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8db3\u3092\u7d44\u3080\u3001\u6b63\u5ea7\u3001\u3042\u3050\u3089\u3001\u6a2a\u5ea7\u308a\u3002<\/li>\n\n\n\n<li>\u982c\u6756\u3092\u3064\u304f\u3001\u673a\u306b\u8098\u3092\u5f37\u304f\u5f53\u3066\u308b\u3002<\/li>\n\n\n\n<li>\u91cd\u3044\u8377\u7269\u3092\u80a9\u306b\u304b\u3051\u308b\u3001\u30ea\u30e5\u30c3\u30af\u30b5\u30c3\u30af\u3092\u9577\u6642\u9593\u80cc\u8ca0\u3046\u3002<\/li>\n\n\n\n<li>\u8155\u6795\u3092\u3059\u308b\u3001\u56fa\u3044\u5e8a\u3067\u5bdd\u308b\u3002<\/li>\n\n\n\n<li>\u9577\u6642\u9593\u306e\u540c\u3058\u59ff\u52e2\uff08\u30c7\u30b9\u30af\u30ef\u30fc\u30af\u306a\u3069\u3067\u306f\u983b\u7e41\u306b\u4f11\u61a9\u3092\u3068\u308b\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u74b0\u5883\u8abf\u6574:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8098\u3084\u819d\u306b\u30af\u30c3\u30b7\u30e7\u30f3\u6027\u306e\u9ad8\u3044\u30b5\u30dd\u30fc\u30bf\u30fc\uff08\u30d1\u30c3\u30c9\uff09\u3092\u7740\u7528\u3059\u308b\u3002<\/li>\n\n\n\n<li>\u30c7\u30b9\u30af\u30ef\u30fc\u30af\u306e\u969b\u3001\u30a2\u30fc\u30e0\u30ec\u30b9\u30c8\u306b\u67d4\u3089\u304b\u3044\u30b8\u30a7\u30eb\u30d1\u30c3\u30c9\u3092\u6577\u304f\u3002<\/li>\n\n\n\n<li>\u5bdd\u5177\u3092\u5de5\u592b\u3059\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6025\u6027\u671f\u306e\u9ebb\u75fa\u3078\u306e\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4fdd\u5b58\u7684\u7642\u6cd5:<\/strong> \u9ebb\u75fa\u304c\u51fa\u305f\u5834\u5408\u3001\u57fa\u672c\u7684\u306b\u306f\u81ea\u7136\u56de\u5fa9\u3092\u5f85\u3061\u307e\u3059\u3002\u7121\u7406\u306b\u52d5\u304b\u3055\u305a\u3001\u304b\u3068\u3044\u3063\u3066\u56fa\u5b9a\u3057\u3059\u304e\u305a\u3001\u904e\u5ea6\u306a\u5727\u8feb\u3092\u907f\u3051\u3066\u5b89\u9759\u306b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u88c5\u5177\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0b\u5782\u8db3:<\/strong> \u8db3\u9996\u3092\u652f\u3048\u308b\u88c5\u5177\uff08AFO: \u77ed\u4e0b\u80a2\u88c5\u5177\uff09\u3084\u30aa\u30eb\u30c8\u30c3\u30d7\u3092\u4f7f\u7528\u3057\u3001\u8ee2\u5012\u3092\u9632\u6b62\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e0b\u5782\u624b:<\/strong> \u624b\u9996\u3092\u652f\u3048\u308b\u30b9\u30d7\u30ea\u30f3\u30c8\u3092\u4f7f\u7528\u3057\u3001\u624b\u306e\u6a5f\u80fd\u3092\u88dc\u52a9\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u624b\u8853\u306b\u3064\u3044\u3066\u306e\u6ce8\u610f\u70b9<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u901a\u5e38\u306e\u624b\u6839\u7ba1\u75c7\u5019\u7fa4\u306a\u3069\u3067\u306f\u6e1b\u5727\u624b\u8853\uff08\u795e\u7d4c\u306e\u901a\u308a\u9053\u3092\u5e83\u3052\u308b\u624b\u8853\uff09\u304c\u884c\u308f\u308c\u307e\u3059\u304c\u3001HNPP\u306e\u60a3\u8005\u3055\u3093\u306e\u5834\u5408\u3001\u624b\u8853\u306e\u52b9\u679c\u306b\u3064\u3044\u3066\u306f\u8b70\u8ad6\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u8853\u81ea\u4f53\u304c\u795e\u7d4c\u3078\u306e\u4fb5\u8972\u3068\u306a\u3063\u305f\u308a\u3001\u50b7\u8de1\u304c\u65b0\u305f\u306a\u5727\u8feb\u6e90\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u614e\u91cd\u306b\u5224\u65ad\u3055\u308c\u307e\u3059\u3002\u4e00\u822c\u7684\u306b\u306f\u3001\u4fdd\u5b58\u7684\u7642\u6cd5\u3067\u6539\u5584\u3057\u306a\u3044\u91cd\u5ea6\u306e\u5834\u5408\u306b\u306e\u307f\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5bb6\u65cf\u5185\u767a\u75c7\u304c\u591a\u3044\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u8840\u7e01\u8005\uff08\u89aa\u3001\u5144\u5f1f\u3001\u5b50\uff09\u3078\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u8a71\u3057\u5408\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7121\u75c7\u72b6\u306e\u5bb6\u65cf\u304c\u691c\u67fb\u3092\u53d7\u3051\u308b\u30e1\u30ea\u30c3\u30c8\uff08\u4e88\u9632\u884c\u52d5\u304c\u3068\u308c\u308b\uff09\u3068\u30c7\u30e1\u30ea\u30c3\u30c8\uff08\u5c06\u6765\u306e\u4e0d\u5b89\uff09\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>17p12 deletion syndrome\uff08HNPP\uff1a\u5727\u8feb\u9ebb\u75fa\u6027\u907a\u4f1d\u6027\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u306e\u30ab\u30d0\u30fc\uff08\u30df\u30a8\u30ea\u30f3\uff09\u304c\u5727\u529b\u306b\u5bfe\u3057\u3066\u30c7\u30ea\u30b1\u30fc\u30c8\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u3061\u3087\u3063\u3068\u8098\u3092\u3064\u3044\u305f\u3060\u3051\u300d\u300c\u8db3\u3092\u7d44\u3093\u3060\u3060\u3051\u300d\u3067\u9ebb\u75fa\u304c\u8d77\u304d\u308b\u305f\u3081\u3001\u6700\u521d\u306f\u9a5a\u304b\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u75c5\u6c17\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u300c\u56de\u5fa9\u3059\u308b\u529b\u3092\u6301\u3063\u3066\u3044\u308b\u300d\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u9ebb\u75fa\u306f\u4e00\u6642\u7684\u306a\u3082\u306e\u3067\u3042\u308a\u3001\u9069\u5207\u306a\u77e5\u8b58\u3092\u6301\u3063\u3066\u300c\u795e\u7d4c\u3092\u5727\u8feb\u3057\u306a\u3044\u751f\u6d3b\u30b9\u30bf\u30a4\u30eb\u300d\u3092\u8eab\u306b\u3064\u3051\u308c\u3070\u3001\u91cd\u7be4\u306a\u969c\u5bb3\u3092\u6b8b\u3059\u3053\u3068\u306a\u304f\u3001\u4ed5\u4e8b\u3084\u8da3\u5473\u3092\u697d\u3057\u307f\u306a\u304c\u3089\u4e00\u751f\u6daf\u3092\u904e\u3054\u3059\u3053\u3068\u304c\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u795e\u7d4c\u3092\u5b88\u308b\u5de5\u592b\u300d\u3092\u65e5\u5e38\u306b\u53d6\u308a\u5165\u308c\u3001\u3082\u3057\u9ebb\u75fa\u304c\u8d77\u304d\u305f\u3068\u304d\u306f\u7126\u3089\u305a\u5c02\u9580\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u56de\u5fa9\u3092\u5f85\u3064\u3002\u305d\u306e\u4ed8\u304d\u5408\u3044\u65b9\u3092\u77e5\u308b\u3053\u3068\u304c\u3001\u3053\u306e\u4f53\u8cea\u3068\u3046\u307e\u304f\u751f\u304d\u3066\u3044\u304f\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: Hereditary Neuropathy with Liability to Pressure Palsies. Initial Posting: September 28, 1998; Last Update: September 24, 2020. <em>Authors: Bird TD.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bHNPP\u306e\u81e8\u5e8a\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3001\u907a\u4f1d\u5b66\u306b\u95a2\u3059\u308b\u6700\u3082\u4fe1\u983c\u3067\u304d\u308b\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Li, J., et al.<\/strong> (2013). 17p12 Deletions. <em>In: Pagon RA, et al., editors. GeneReviews\u00ae.<\/em><\/li>\n\n\n\n<li><strong>Chance, P.F., et al.<\/strong> (1993). DNA deletion associated with hereditary neuropathy with liability to pressure palsies. <em>Cell<\/em>, 72(1), 143-151.\n<ul class=\"wp-block-list\">\n<li>(\u203b17p12\u6b20\u5931\u3068HNPP\u306e\u95a2\u9023\u3001\u304a\u3088\u3073CMT1A\u3068\u306e\u76f8\u53cd\u95a2\u4fc2\uff08reciprocal nature\uff09\u3092\u89e3\u660e\u3057\u305f\u6b74\u53f2\u7684\u304b\u3064\u57fa\u790e\u7684\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tyson, J., et al.<\/strong> (1996). Hereditary neuropathy with liability to pressure palsies: a clinical, electrophysiological and genetic study of a large Welsh family. <em>Journal of Neurology, Neurosurgery &amp; Psychiatry<\/em>.<\/li>\n\n\n\n<li><strong>Mouton, P., et al.<\/strong> (1999). Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. <em>Neurology<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u907a\u4f1d\u5b50\u5b66\u7684\u306b\u78ba\u8a8d\u3055\u308c\u305fHNPP\u60a3\u8005\u306b\u304a\u3051\u308b\u81e8\u5e8a\u75c7\u72b6\u306e\u591a\u69d8\u6027\u3068\u96fb\u6c17\u751f\u7406\u5b66\u7684\u7279\u5fb4\u3092\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002\u203b\u6ce8\uff1a\u8ad6\u6587\u30bf\u30a4\u30c8\u30eb\u7b49\u3067\u53e4\u3044\u8868\u8a18\u3068\u3057\u306617p11.2\u3068\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u73fe\u5728\u306e\u5730\u56f3\u3067\u306f17p12\u9818\u57df\u306ePMP22\u3092\u6307\u3057\u307e\u3059\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>PMP22<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence).\n<ul class=\"wp-block-list\">\n<li>(PMP22\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-16719","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16719","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16719\/revisions"}],"predecessor-version":[{"id":16833,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16719\/revisions\/16833"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16719"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}